Lack of MEF2A Δ7aa mutation in Irish families with early onset ischaemic heart disease, a family based study

Background: Ischaemic heart disease (IHD) is a complex disease due to the combination of environmental and genetic factors. Mutations in the MEF2A gene have recently been reported in patients with IHD. In particular, a 21 base pair deletion (Δ7aa) in the MEF2A gene was identified in a family with an autosomal dominant pattern of inheritance of IHD. We investigated this region of the MEF2A gene using an Irish family-based study, where affected individuals had early-onset IHD. Methods: A total of 1494 individuals from 580 families were included (800 discordant sib-pairs and 64 parent-child trios). The Δ7aa region of the MEF2A gene was investigated based on amplicon size. Results: The Δ7aa mutation was not detected in any individual. Variation in the number of CAG (glutamate) and CCG (proline) residues was detected in a nearby region. However, this was not found to be associated with IHD. Conclusion: The Δ7aa mutation was not detected in any individual within the study population and is unlikely to play a significant role in the development of IHD in Ireland. Using family-based tests of association the number of tri-nucleotide repeats in a nearby region of the MEF2A gene was not associated with IHD in our study group. © 2006 Horan et al; licensee BioMed Central Ltd.

Social Networks Usage Profile: Descriptive study with students in the University of Murcia

Telematic tools are very important for our lives in the present era and moreover this idea is made more evident if we analyse young people behaviours. However, it seems that the possibilities that these tools allow subjects from a professional point of view, beyond the purely playful aspects, are still not fully exploited both by subjects, neither by educational institutions where they learn. Our work studies the uses of social media in the context of university students. In order to this we have designed a research based on quantitative methodology with a survey. We have applied a questionnaire to students in the University of Murcia. The questionnaire was answered by 487 students in the first half of 2014. The survey results confirm our hypothesis that social networks are part of the basic and habitual tools of communication between the youth of our university and eminently used for leisure purposes, and that the tools used for more academic activities are those allowing greater control of privacy.

Genetic variants of complement factor H gene are not associated with premature coronary heart disease:A family-based study in the Irish population

Background: The complement factor H (CFH) gene has been recently confirmed to play an essential role in the development of age-related macular degeneration (AMD). There are conflicting reports of its role in coronary heart disease. This study was designed to investigate if, using a family-based approach, there was an association between genetic variants of the CFH gene and risk of early-onset coronary heart disease. Methods: We evaluated 6 SNPs and 5 common haplotypes in the CFH gene amongst 1494 individuals in 580 Irish families with at least one member prematurely affected with coronary heart disease. Genotypes were determined by multiplex SNaPshot technology. Results: Using the TDT/S-TDT test, we did not find an association between any of the individual SNPs or any of the 5 haplotypes and early-onset coronary heart disease. Conclusion: In this family-based study, we found no association between the CFH gene and early-onset coronary heart disease. © 2007 Meng et al; licensee BioMed Central Ltd.

Chromosome 9p21.3 is associated with early-onset coronary heart disease in the Irish population

Coronary heart disease (CHD) remains a leading cause of death across the world. A region on chromosome 9p21.3 has been recently reported to be associated with CHD. We evaluated 3 SNPs and 3 common haplotypes in the 9p21.3 region in 1494 individuals from 580 Irish families, where at least 1 member had early-onset (males

Novel dermaseptin, adenoregulin and caerin homologs from the Central American red-eyed leaf frog, Agalychnis callidryas, revealed by functional peptidomics of defensive skin secretion

By integrating systematic peptidome and transcriptome studies of the defensive skin secretion of the Central American red-eyed leaf frog, Agalychnis callidryas, we have identified novel members of three previously described antimicrobial peptide families, a 27-mer dermaseptin-related peptide (designated DRP-AC4), a 33-mer adenoregulin-related peptide (designated ARP-AC1) and most unusually, a 27-mer caerin-related peptide (designated CRP-AC1). While dermaseptin and adenoregulin were originally isolated from phyllomedusine leaf frogs, the caerins, until now. had only been described in Australian frogs of the genus, Litoria. Both the dermaseptin and adenoregulin were C-terminally amidated and lacked the C-terminal tripeptide of the biosynthetic precursor sequence. In contrast, the caerin-related peptide, unlike the majority of Litoria analogs. was not C-terminally amidated. The present data emphasize the need for structural characterization of mature peptides to ensure that unexpected precursor cleavages and/or post-translational modifications do not produce mature peptides that differ in structure to those predicted from cloned biosynthetic precursor cDNA. Additionally, systematic study of the secretory peptidome can produce unexpected results such as the CRP described here that may have phylogenetic implications. It is thus of the utmost importance in the functional evaluation of novel peptides that the primary structure of the mature peptide is unequivocally established - something that is often facilitated by cloning biosynthetic precursor cDNAs but obviously not reliable using such data alone. (C) 2008 Elsevier Masson SAS. All rights reserved.

Adjusting to Life After Esophagectomy: The Experience of Survivors and Carers

Following surgery for esophageal cancer, patients can experience complex physical, social, and emotional changes. Investigation of these challenges, particularly from the perspective of the patient and his or her carer, has been limited. The current study explored the emotional and cognitive experiences of esophageal cancer survivors and those of their carers, using focus groups conducted with members of a patient support group. Analysis of the patients’ data yielded three themes: coping with a death sentence, adjusting to and accepting an altered self, and the unique benefits of peer support. Analysis of the carers’ data also yielded three themes: the carer as buffer, representations of recovery and recurrence, and normalizing experiences through peer support. Esophageal cancer patients and their carers require holistic support in their efforts to adjust to the social, emotional, and physical consequences of esophagectomy. Peers could be an effective channel for the support of patients and carers.

Gaze and power. A post-structuralist interpretation on Perseus’ myth

Gaze hierarchizes, manages and labels reality. Then, according to Foucault, gaze can be understood as a practice of power. This paper is inspired by his theories, and it applies them to one of the most powerful symbolic spheres of Western culture: Greek Myths. Notions such as visibility, invisibility and panopticism bring new light into the story of Perseus and Medusa, and they enable a re-reading of this Myth focused on the different ways of power that emerge from the gaze.

"Cómo pintar el aire". Fundamentos científicos de la perspectiva atmosférica

La perspectiva aérea o atmosférica es juzgada por los pintores como parte esencial de la pintura, una vez establecidos los presupuestos geométricos de la representación naturalista mediante la perspectiva lineal. Leonardo da Vinci fue el primer autor en definir la perspectiva aérea o atmosférica, conocidos ya a través de L. B. Alberti los fundamentos geométricos de la perspectiva lineal en el tratado De Pictura (1435). Doscientos años después, tras la influyente publicación del Optics de Newton, contextualizadas bajo el espíritu racionalista del siglo XVIII, el artículo estudia las recomendaciones que desde la ciencia y los científicos (específicamente a través de tres figuras relevantes: Brook Taylor, J. H. Lambert y Gaspard Monge) se dan a los pintores con la pretensión de arbitrar una medición exacta del color, en confrontación con el tradicional empirismo del mundo artístico. Este tema puede considerarse un capítulo de gran interés en la larga historia de la pintura y la representación de los fenómenos atmosféricos, cuyos antecedentes teóricos tienen su inicio en el Débat sur le Coloris de la Académie Française del siglo XVII y sus resultados, conducirán hacia el nacimiento de la moderna Teoría del color, en respuesta a una cuestión tan compleja sobre cómo pintar el aire.

Los primeros pasos en el escorzo de la figura humana. "Un análisis desde la geometría"

A través de un recorrido histórico centrado en el Renacimiento, se exponen las aportaciones más significativas de teóricos y artistas en la evolución del escorzo de la figura humana desde un punto de vista geométrico. Los artistas que con sus dibujos y escritos ayudaban a otros en el aprendizaje de la representación, se apresuraron a incluir el estudio del escorzo en sus tratados, buscando métodos que facilitaran su dibujo sobre cualquier soporte y en cualquier posición en el espacio. En este artículo se analizan y enlazan los trazados propuestos por los estudiosos de la geometría, con las obras de arte que reflejan importantes avances en este sentido. Soportes como el lienzo, el muro o la bóveda, presentan al pintor superficies diferentes de trabajo y en distintas posiciones en el espacio. La figura humana, protagonista en la escena, tendrá que adaptarse a ellos para ser contemplada desde unos espacios arquitectónicos cada vez más amplios y con más posibilidades. Fue necesario dominar la perspectiva en la pintura, y muy particularmente en la mural, para ofrecer composiciones cada día más ambiciosas y sorprendentes.